HSPG2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HSPG2 wild-type allele is located within 1p36.1-p34 and is approximately 115 kb in length. This allele, which encodes basement membrane-specific heparan sulfate proteoglycan core protein, plays a role in both the structure of and cell interaction with the basement membrane. Mutation of the gene is associated with both Schwartz-Jampel syndrome and Silverman-Handmaker type dyssegmental dysplasia.

**Synonyms:** - Heparan Sulfate Proteoglycan 2 wt Allele - PLC - PRCAN - Perlecan Gene - Perlecan Proteoglycan Gene - SJA - SJS - SJS1 - Schwartz-Jampel Syndrome 1 (Chondrodystrophic Myotonia) Gene